The diverse neurological features of Niemann-Pick disease type C: a report of two cases

Mov Disord. 1988;3(4):295-9. doi: 10.1002/mds.870030403.


Two cases of Niemann-Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic-rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, when she was 13. Neither patient had hepatosplenomegaly; the diagnosis of Niemann-Pick disease type C was based on finding foamy storage cells in bone marrow aspirates.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain / physiopathology
  • Cerebellar Ataxia / physiopathology
  • Child
  • Electroencephalography
  • Epilepsy, Tonic-Clonic / physiopathology
  • Female
  • Humans
  • Male
  • Neurologic Examination
  • Niemann-Pick Diseases / classification
  • Niemann-Pick Diseases / physiopathology*
  • Ophthalmoplegia / physiopathology
  • Parkinson Disease / physiopathology